A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030513



Internal ID18773044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:128849806..129043871hg38UCSC Ensembl
Innerchr4:129770961..129965026hg19UCSC Ensembl
Innerchr4:129990411..130184476hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38194066
hg19194066
hg18194066
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5386n100
Supporting Variantsnssv3639434
Samples
Known GenesJADE1, SCLT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030513
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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